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Description
They recognised that simply supplementing carnitine failed to show a gain in muscle stores (4)

Dysfunctional astrocytic autophagy not only worsens intrinsic pathology but also accelerates motor neuron degeneration, identifying astrocytes as prime targets for therapies aimed at restoring autophagic balance

& Pritchard-Jones, K

Accordingly, the types of mutations that cause the NF1 phenotype vary from complete gene deletions, insertions, stop, and splicing mutations
